Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007566T>C , CM000663.2:g.94007566T>C | GRCh38 |
| NC_000001.10:g.94473122T>C , CM000663.1:g.94473122T>C | GRCh37 |
| NC_000001.9:g.94245710T>C | NCBI36 |
| NG_009073.1:g.118584A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6005+68A>G MANE Select | ENSP00000359245.3:n.6005+68A>G | |
| ENST00000370225.3:c.6005+68A>G | ENSP00000359245.3:n.6005+68A>G | |
| ENST00000465352.1:n.421+68A>G | ||
| ENST00000484388.1:n.119+68A>G | ||
| ENST00000536513.5:c.2381+68A>G | ENSP00000439707.2:n.2381+68A>G | |
| NM_000350.2:c.6005+68A>G | NP_000341.2:n.6005+68A>G | |
| NM_000350.3:c.6005+68A>G MANE Select | NP_000341.2:n.6005+68A>G |